COL1A1 and osteogenesis imperfecta: These disorders are categorized into major clinical groups, such as Skeletal Dysplasias (e.g., analysis of genes like ACAN, ACP5, and ACVR1), Osteogenesis Imperfecta (COL1A1, COL1A2, BMP1), Metabolic Disorders (ACE, AGT, BICC1), and Cardiomyopathies, among others.